Transcriptome level analysis in Rett syndrome using human samples from different tissues

Table 4 Displaying the mutation classification of each RTT patient in the individual studies. Sample identifier number, age, genetic mutation, amino acid change and effected domain are all detailed

Study	Sample number	Age (Years)	Mutation gene	Amino Acid change	Effected Domain
Post-Mortem Brain Studies
Colantuoni et al. 2001 [23]	RTT1	2	c.502 C > T	p.R168X	ID
	RTT2	10	c.808 C > T	p.R270X	TRD-NLS
	RTT3	25	c.880 C > T	p.R294X	TRD
	RTT4	29	No coding region mutation detected	NA
	RTT5	19	c.880 C > T	p.R294X	TRD
	RTT6	19	No coding region mutation detected	NA
Gibson et al. 2010 [25]	RTT1	11	c.763 C > T	p.R255X	TRD-NLS
	RTT3	12	c.808 C > T	p.R270X	TRD-NLS
	RTT4	18	c.473 C > T	p.T158 M	MBD
	RTT5	11	c.316C > T	p.R106W	MBD
	RTT6	21	c.808C > T	p.R270X	TRD-NLS
	RTT9	4	c.750insC	p.P251fs	TRD
Lin et al. 2016 [26]	RTT1	10	c.378-2A > G	splice site	Intronic region
	RTT2	9	c.763 C > T	p.R255X	TRD-NLS
	RTT3	7	c.451G > T	p.D151Y	CTD
Deng et al. 2007 [24]	Data not available
Blood Studies
Colak et al. 2011 [14]	Data not available
Pecorelli et al. 2013 [34]	RTT1	7	Early truncating mutation	NA
	RTT2	10	c.403A > G	p.K135E	MBD
	RTT3	9	c.403A > G	p.K135E	MBD
	RTT4	9	c.455C > G	p.P152R	MBD
	RTT5	12	c.473C > T	p.T158 M	MBD
	RTT6	19	c.763C > T	p.R255X	TRD-NLS
	RTT7	22	c.806_807delG	p.G268 fs	TRD-NLS
	RTT8	7	c.808C > T	p.R270X	TRD-NLS
	RTT9	7	c.808C > T	p.R270X	TRD-NLS
	RTT10	12	C880C > T	p.R294X	TRD
	RTT11	6	c.880C > T	p.R294X	TRD
	RTT12	11	c.916C > T	p.R306C	TDR
Induced pluripotent stem cell studies
Tanaka et al.2014 [47]	RTT1	5	c.473 C > T	T158 M	MBD
	RTT2	5	c.703C > T	Q244X	TRD
	RTT3	25	c.705delG	E235fs	TRD/CTD
	RTT4	8	c.916C > T	R306C	TDR
	RTT5	5	c. 1461A > G	X487W	CTD

MBD Methyl Binding Domain, ID Inter Domain, TRD Transcriptional Repressor Domain, TRD-NLS Transcriptional Repressor Domain-Nuclear Localisation Signal, CTD C-Terminal Domain

ISSN: 1750-1172